Evidence map›Paper›PMID 32642785›Full record

ArticleJournal of neurology2020

Yield of the PMP22 deletion analysis in patients with compression neuropathies.

Vukan Ivanovic, Marija Brankovic, Bogdan Bjelica, Aleksandra Kacar, Radoje Tubic, Milena Jankovic, Ana Marjanovic, Ivana Novakovic, Vidosava Rakocevic-Stojanovic, Stojan Peric

Abstract read
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In one paragraph

Article in Journal of neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed, 1 pooled it
–field-weighted citation impact, top 92% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 1 synthesis or guideline pooled it, 2 citations in OpenAlex.

  1. Genes · 2025
    Pooled it
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors at 1 institution in 1 country.

Vukan IvanovicDepartment for Neuromuscular Disorders, Faculty of Medicine, Neurology Clinic, Clinical Center of Serbia, University of Belgrade, 6, Dr Subotic Street, 11000, Belgrade, Serbia.
Marija BrankovicDepartment for Neuromuscular Disorders, Faculty of Medicine, Neurology Clinic, Clinical Center of Serbia, University of Belgrade, 6, Dr Subotic Street, 11000, Belgrade, Serbia.
Bogdan BjelicaDepartment for Neuromuscular Disorders, Faculty of Medicine, Neurology Clinic, Clinical Center of Serbia, University of Belgrade, 6, Dr Subotic Street, 11000, Belgrade, Serbia.
Aleksandra KacarDepartment for Neuromuscular Disorders, Faculty of Medicine, Neurology Clinic, Clinical Center of Serbia, University of Belgrade, 6, Dr Subotic Street, 11000, Belgrade, Serbia.
Radoje TubicDepartment for Neuromuscular Disorders, Faculty of Medicine, Neurology Clinic, Clinical Center of Serbia, University of Belgrade, 6, Dr Subotic Street, 11000, Belgrade, Serbia.
Milena JankovicDepartment for Neuromuscular Disorders, Faculty of Medicine, Neurology Clinic, Clinical Center of Serbia, University of Belgrade, 6, Dr Subotic Street, 11000, Belgrade, Serbia.
Ana MarjanovicDepartment for Neuromuscular Disorders, Faculty of Medicine, Neurology Clinic, Clinical Center of Serbia, University of Belgrade, 6, Dr Subotic Street, 11000, Belgrade, Serbia.
Ivana NovakovicDepartment for Neuromuscular Disorders, Faculty of Medicine, Neurology Clinic, Clinical Center of Serbia, University of Belgrade, 6, Dr Subotic Street, 11000, Belgrade, Serbia.
Vidosava Rakocevic-StojanovicDepartment for Neuromuscular Disorders, Faculty of Medicine, Neurology Clinic, Clinical Center of Serbia, University of Belgrade, 6, Dr Subotic Street, 11000, Belgrade, Serbia.
Stojan PericDepartment for Neuromuscular Disorders, Faculty of Medicine, Neurology Clinic, Clinical Center of Serbia, University of Belgrade, 6, Dr Subotic Street, 11000, Belgrade, Serbia. stojanperic@gmail.com.ORCID http://orcid.org/0000-0002-2979-556X
University of Belgrade · RS

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionHereditary neuropathy with liability to pressure palsies (HNPP) is a rare neuromuscular disorder, mostly caused by PMP22 deletion.

aimTo determine a yield of the genetic analysis of PMP22 gene deletion in patients with compression neuropathies.

methodWe included 112 patients with clinical suspicion of HNPP diagnosis. Nerve conduction studies (NCS) were performed for motor and sensory nerves bilaterally. Number of the PMP22 gene copies was determined using a real-time polymerase chain reaction (RT-PCR).

resultsPMP22 deletion was found in 34 (30.3%) patients. Patients with genetically confirmed HNPP had 12 years earlier disease onset compared to other patients with compression neuropathies (p < 0.01), more nerves affected during lifespan (5.5 ± 3.5 vs. 3.0 ± 2.0, p < 0.01) and at the time of referral (2.7 ± 2.5 vs. 2.0 ± 1.9, p < 0.05). HNPP patients had positive family history more frequently (p < 0.01). Foot deformities (pes cavus and hammertoe), symmetric muscle atrophy in lower legs and absent muscle reflexes in lower limbs were more common in HNPP patients. NCS abnormalities were also more common in HNPP group. Multiple linear regression analysis identified positive family history (β =  + 0.35, p < 0.01) and decreased sensory conduction velocity in at least three sensory nerves (β =  + 0.40, p < 0.01) as independent predictors of the PMP22 deletion.

conclusionAmong patients with compression neuropathies, those with a positive family history, earlier symptom onset and NCS abnormalities had a higher chance to have PMP22 deletion.

Indexed as

ArthrogryposisCharcot-Marie-Tooth DiseaseHereditary Sensory and Motor NeuropathyNerve Compression SyndromesGene DeletionHumansMyelin ProteinsMyelin ProteinsPMP22 protein, humanCompression neuropathyFamily historyHereditary neuropathy with liability to pressure palsies (HNPP)PMP22 deletionPolyneuropathy

Identifiers

PMID32642785
OpenAlexW3041004091

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.